Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing

PLoS One. 2015 Mar 23;10(3):e0119689. doi: 10.1371/journal.pone.0119689. eCollection 2015.

Abstract

Peritoneal mesothelioma is a rare and sometimes lethal malignancy that presents a clinical challenge for both diagnosis and management. Recent studies have led to a better understanding of the molecular biology of peritoneal mesothelioma. Translation of the emerging data into better treatments and outcome is needed. From two patients with peritoneal mesothelioma, we derived whole genome sequences, RNA expression profiles, and targeted deep sequencing data. Molecular data were made available for translation into a clinical treatment plan. Treatment responses and outcomes were later examined in the context of molecular findings. Molecular studies presented here provide the first reported whole genome sequences of peritoneal mesothelioma. Mutations in known mesothelioma-related genes NF2, CDKN2A, LATS2, amongst others, were identified. Activation of MET-related signaling pathways was demonstrated in both cases. A hypermutated phenotype was observed in one case (434 vs. 18 single nucleotide variants) and was associated with a favourable outcome despite sarcomatoid histology and multifocal disease. This study represents the first report of whole genome analyses of peritoneal mesothelioma, a key step in the understanding and treatment of this disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biomarkers, Tumor / genetics
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics*
  • Female
  • Genes, Neurofibromatosis 2*
  • Genome, Human*
  • Genome-Wide Association Study
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Mesothelioma / genetics*
  • Middle Aged
  • Peritoneal Neoplasms / genetics*
  • Precision Medicine
  • Prognosis
  • Protein Serine-Threonine Kinases / genetics*
  • Tumor Suppressor Proteins / genetics*

Substances

  • Biomarkers, Tumor
  • Cyclin-Dependent Kinase Inhibitor p16
  • Tumor Suppressor Proteins
  • LATS2 protein, human
  • Protein Serine-Threonine Kinases

Grants and funding

This work was supported by the Personolized Oncogenomics program with funding from the BC Cancer Agency Research Foundation. PhenoPath Laboratories provided support in the form of salaries for authors HH & AMG. The funders did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript.